Case
SR615
Student Mode
AR Cone and Cone Rod Dystrophy (IA1biii)
Female
Female
Hidden
SR615
Student Mode
AR Cone and Cone Rod Dystrophy (IA1biii)
Female
Female
Highlighted Images
| Age at visit: 19 years | OD | OS |
|---|---|
History
This 19 year old woman first experienced some reduction of her central vision when she was 15 years old.
| Age at visit: 15 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 15 years (Visit 2) |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 19 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 22 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 39 years |
| Age at visit: 40 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 41 years |
| Age at visit: 42 years |
| Age at visit: 47 years |
| Age at visit: 50 years |
| Age at visit: 53 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Cone and Cone Rod Dystrophy | MERTK | Thr145 del2attAC | Gly468 del1ggA | AR |
Disease:
Gene:
Allele 1:
Thr145 del2attAC
Allele 2:
Gly468 del1ggA
Inheritance:
AR